Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999998609577275 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:114401611A>GN/A show variant in all transcripts   IGV
HGNC symbol NXPE1
Ensembl transcript ID ENST00000251921
Genbank transcript ID NM_152315
UniProt peptide Q8N323
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.110T>C
g.29007T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7944960
databasehomozygous (G/G)heterozygousallele carriers
1000G240716956
ExAC23281553217860
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0780.002
0.2310.001
(flanking)-1.5630
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -104) | splice site change before start ATG (at aa -103) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased29001wt: 0.23 / mu: 0.29wt: ATTTCAGCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCC
mu: ATTTCAGCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCC		 ctct|AAAC
Acc increased29002wt: 0.52 / mu: 0.58wt: TTTCAGCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCCA
mu: TTTCAGCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCCA		 tcta|AACT
Donor gained289990.37mu: TCTGCTCTAAACTCA TGCT|ctaa
distance from splice site 20
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
121SIGNALPotential.might get lost (downstream of altered splice site)
3939CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
491491CONFLICTG -> V (in Ref. 4; AAH29049).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 418 / 418
chromosome 11
strand -1
last intron/exon boundary 1100
theoretical NMD boundary in CDS 632
length of CDS 1218
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 110
gDNA position
(for ins/del: last normal base / first normal base)		 29007
chromosomal position
(for ins/del: last normal base / first normal base)		 114401611
original gDNA sequence snippet GCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCCATTACT
altered gDNA sequence snippet GCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCCATTACT
original cDNA sequence snippet GCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCCATTACT
altered cDNA sequence snippet GCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCCATTACT
wildtype AA sequence MSSPALTAGA SGKVMDFNNG TYLVSFTLFW EGQVSLSLLL IHPSEGASAL WRARNQGYDK
IIFKGKFVNG TSHVFTECGL TLNSNAELCE YLDDRDQEAF YCMKPQHMPC EALTYMTTRN
REVSYLTDKE NSLFHRSKVG VEMMKDRKHI DVTNCNKREK IEETCQVGMK PPVPGGYTLQ
GKWITTFCNQ VQLDTIKING CLKGKLIYLL GDSTLRQWIY YFPKVVKTLK FFDLHETGIF
KKHLLLDAER HTQIQWKKHS YPFVTFQLYS LIDHDYIPRE IDRLSGDKNT AIVITFGQHF
RPFPIDIFIR RAIGVQKAIE RLFLRSPATK VIIKTENIRE MHIETERFGD FHGYIHYLIM
KDIFKDLNVG IIDAWDMTIA YGTDTIHPPD HVIGNQINMF LNYIC*
mutated AA sequence N/A
speed 0.64 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project